Canonical Allele Identifier: CA1354843272
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1401252674
gnomAD v4: 3-30606867-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606867G>A , CM000665.2:g.30606867G>A GRCh38
NC_000003.11:g.30648359G>A , CM000665.1:g.30648359G>A GRCh37
NC_000003.10:g.30623363G>A NCBI36
NG_007490.1:g.5366G>A , LRG_779:g.5366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-17G>A MANE Select ENSP00000295754.5:n.-17G>A
ENST00000295754.9:c.-17G>A ENSP00000295754.5:n.-17G>A
ENST00000359013.4:c.-17G>A ENSP00000351905.4:n.-17G>A
NM_001024847.2:c.-17G>A , LRG_779t1:c.-17G>A NP_001020018.1:n.-17G>A
NM_003242.5:c.-17G>A NP_003233.4:n.-17G>A
XM_011534045.1:c.-12+274G>A XP_011532347.1:n.-12+274G>A
XM_011534045.3:c.-12+274G>A XP_011532347.1:n.-12+274G>A
NM_003242.6:c.-17G>A MANE Select NP_003233.4:n.-17G>A
Search 100 bp 5'
Search 100 bp 3'